原発性免疫不全症候群

小児・神経疾患

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
Deletion	NM_000051.4(ATM):c.4844del (p.Lys1615fs)	ATM	Pathogenic	11	108165719	108165719	TA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656201
Deletion	NM_000051.4(ATM):c.8328_8329del (p.Ile2776fs)	ATM	Pathogenic	11	108214008	108214009	TTG	T	criteria provided, single submitter	ClinGen:CA658656242
single nucleotide variant	NM_000051.4(ATM):c.8418+5G>A	ATM	Pathogenic/Likely pathogenic	11	108214103	108214103	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA601698826
single nucleotide variant	NM_000051.4(ATM):c.7921C>T (p.Gln2641Ter)	ATM	Pathogenic/Likely pathogenic	11	108203621	108203621	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA6266213
single nucleotide variant	NM_000051.4(ATM):c.3025G>T (p.Glu1009Ter)	ATM	Pathogenic	11	108142081	108142081	G	T	criteria provided, single submitter	ClinGen:CA382547503
single nucleotide variant	NM_000051.4(ATM):c.5065C>T (p.Gln1689Ter)	ATM	Pathogenic	11	108170500	108170500	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA382540526
single nucleotide variant	NM_000051.4(ATM):c.8850+2T>C	ATM	Likely pathogenic	11	108225603	108225603	T	C	criteria provided, single submitter	ClinGen:CA382526141
Deletion	NM_000051.4(ATM):c.3430_3431del (p.Leu1144fs)	ATM	Pathogenic	11	108151748	108151749	CTT	C	criteria provided, single submitter	ClinGen:CA658656199
single nucleotide variant	NM_000051.4(ATM):c.5692C>T (p.Arg1898Ter)	ATM	Pathogenic	11	108178641	108178641	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA6265757
single nucleotide variant	NM_000051.4(ATM):c.5762+1G>A	ATM	Likely pathogenic	11	108178712	108178712	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA382548029